September 20, 2012
By Andy Hyland
|Bruce Wells and Richard Barohn, M.D.|
Patients are coming from as far away as New Zealand to participate in a clinical trial at the University of Kansas Medical Center — a study that is giving new hope to people with a rare genetic condition that attacks their muscles.
Pompe disease affects an estimated 1 in every 40,000 people, according to the National Institute of Neurological Disorders and Stroke. Symptoms can include progressive weakness in the arms and legs and shortness of breath.
It can eventually lead to death from respiratory failure. While some patients suffer only occasional weakness, fatigue and muscle pain, others may have to use a wheelchair for mobility.
Richard J. Barohn, M.D., chair of the KU Medical Center Department of Neurology, is leading the trial at the KUMC site for adult patients with the condition.
The disease is caused by a genetic mutation that reduces or eliminates the production of an essential enzyme in the body.
"If you can come up with a drug that can be an enzyme replacement for what is genetically lacking, then it's a major scientific advance," Barohn said. "While there is no cure for this disease, this drug could offer people a way to regain their strength, slow the progression of the disease and improve their quality of life."
Barohn is testing the effects of a drug designed to replace the enzyme that the patients' bodies aren't producing. The trial is one of the first to be conducted in KU's new state-of-the-art, patient-friendly Clinical Research Center in Fairway, Kan., which opened in January of this year. Patients come in once every two weeks to receive an infusion of the experimental drug. Those who have come from New Zealand are staying in area hotels during eight of the 24 weeks they're enrolled in the study before finishing their treatments in Australia.
Bruce Wells, a 47-year-old pet store owner from Napier, New Zealand, said he appreciated the friendly staff and "top class" facilities at KU's Clinical and Translational Science Unit, housed at the Clinical Research Center.
The Clinical and Translational Science Unit is part of Frontiers: The Heartland Institute for Clinical and Translational Research, which is funded by the National Institutes of Health (grant numbers TR000001 and RR033179).
Wells was diagnosed with Pompe disease in September 2011, and said he is one of only six people in New Zealand with the condition. His twin sister had been diagnosed with the disease earlier, so he wasn't totally surprised to learn he, too, had the disease.
While he said there are no guarantees with the disease, he said the trial has given him hope, and he's excited to be part of a research trial that could help find a viable treatment.
Two other patients from New Zealand, Laurie Hill and Dean Jones, also said they have had a good experience at the Clinical Research Center and are enjoying spending time in the Kansas City area.
"I had never been to America before," Hill said. "The people are just so great. As far as the people go, I definitely think I made a good choice."
KUMC is one of only a small handful of sites across the world offering the drug trial. Another site is in Florida, and others are in the United Kingdom and France.
The onset of Pompe disease can occur both in infants and later in life. Infants who contract the disease often die before their first birthday from cardiac or respiratory complications.
The symptoms and timing of the onset of the disease in adults can vary widely, and typically worsen as the disease progresses.
Barohn has conducted studies in the past with different drugs that fight the disease, and said that nationally, research on rare diseases like Pompe disease is becoming more prominent.
"It's an area that's been neglected in the past, but it's certainly getting a lot of attention now," he said.
Mary Kay Cobb is a 56-year-old school counselor who works with homeless children in Chicago. She flies into Kansas City every two weeks to receive treatment for the disease. She was diagnosed just two years ago, and said she was glad to participate in the study not just for herself, but for others with the disease, too.
"We've got a lot of hope," she said. "Seeing other people that are in much worse shape than I am, I'm glad people smarter than me are working on this."